11 documents found, page 1 of 2
Pediatric Familial Hypercholesterolaemia
Abrantes, L.B.; Alves, A.C.; Medeiros, A.M.; Correia, S.; Cruz, A.; Ferreira, A.C.; Lobarinhas, G.; Garcia, P.; Guerra, A.; Mansilha, H.; Martins, E.Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with high levels of LDL-c and premature CHD (pCHD). Identification of FH in pediatric age is essential for a timely diagnosis and management. This study aims to highlight the importance of FH diagnosis in children.
Characterization of pediatric patients from Portuguese FH study
Abrantes, LB.; Alves, A.C.; Medeiros, A.M.; Correia, S.; Cruz, A.; Lobarinhas, G.; Garcia, P.; Guerra, A.; Mansilha, H.; Martins, E.; Martins, P.The Portuguese FH Study (PFHS) started in 1999. The aim of the PFHS is to identify the cause of dyslipidemia in patients with a clinical diagnosis of FH. To date, 452 pediatric patients were referred to us, 288 of which are index patients. The aim of this study was to analyse the lipid profile and molecular diagnosis of children recruited for the PFHS.
Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hy...
Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; Cortez-Pinto, H.; Bourbon, M.Highlights: - Dyslipidemia phenotype of patients with familial hypercholesterolemia and lysosomal acid lipase deficiency (LALD) can overlap; - Familial hypercholesterolemia negative patients should be investigated to identify possible LALD patients; - Correct identification of LALD patients is important for patient prognosis. Background: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder...
Will Familial Hypercholesterolaemia Cohorts Hide Many More Lisosomal Acid Lipas...
Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Mariano, C.; Lobarinhas, G.; Guerra, A.; Mansilha, H.; Bourbon, MafaldaAims: Lisosomal Acid Lipase Deficiency (LALD), historical known as Cholesterol Ester Storage Disease (CESD), is an autosomal lisosomal storage recessive disorder and an unrecognized cause of dyslipidaemia. Mutations in LIPA gene are the underlying cause of LALD, being a mutation in the splice site of exon 8 the most common cause of the disease. Patients with LALD present dyslipidaemia and altered liver function...
Bilirubin is independently associated with oxidized LDL levels in young obese p...
Nascimento, H.; Alves, A.; Coimbra, S.; Catarino, C.; Gomes, D.; Bronze-da-Rocha, E.; Costa, E.; Rocha-Pereira, P.; Aires, L.; Mota, J.; Mansilha, H.BACKGROUND: Bilirubin can prevent lipid oxidation in vitro, but the association in vivo with oxidized low-density lipoprotein (Ox-LDL) levels has been poorly explored. Our aim is to the association of Ox-LDL with total bilirubin (TB) levels and with variables related with metabolic syndrome and inflammation, in young obese individuals. FINDINGS: 125 obese patients (13.4 years; 53.6% females) were studied. TB, l...
A case of Protracted Diarrhea in a Newborn: a Diagnostic Challenge
Mendes, C.; Figueiredo, C.; Mansilha, H.; Proença, E.; Oliveira, D.; Lima, R.; Carvalho, C.Congenital diarrhea comprises a broad range of pathologies and often requires a thorough workup and immediate treatment. Although rare, microvillous inclusion disease (MVID) should be included in differential diagnosis of this presentation in the neonate. We report the case of a 36-week newborn who developed signs of severe dehydration and lethargy, requiring fluid resuscitation and total parenteral nutrition. ...
Body fat percentage is a major determinant of total bilirubin independently of ...
Belo, L.; Nascimento, H.; Kohlova, M.; Bronze-da-Rocha, E.; Fernandes, J.; Costa, E.; Catarino, C.; Aires, L.; Mansilha, H.; Rocha-Pereira, P.OBJECTIVES: Bilirubin has potential antioxidant and anti-inflammatory properties. The UGT1A1*28 polymorphism (TA repeats in the promoter region) is a major determinant of bilirubin levels and recent evidence suggests that raised adiposity may also be a contributing factor. We aimed to study the interaction between UGT1A1 polymorphism, hematological and anthropometric variables with total bilirubin levels in you...
Alimentação e nutrição do lactente
Guerra, A.; Rêgo, C.; Silva, Diana; Ferreira, G.C.; Mansilha, H.; Antunes, H.; Ferreira, R.
Alimentação, exercício físicio e doença cardiovascular em adolescentes. Conclus...
Mansilha, H.; Santos, M.Eventos clínicos cardiovasculares decorrentes de Doença Cardiovascular (DCV) estão entre as principais causas de morbilidade e mortalidade nos países industrializados As origens patofisiológicas das lesões responsá- veis, as lesões ateroscleróticas, podem datar de décadas previamente aos eventos clínicos, ou seja, durante a infância e adolescência. A maioria destes eventos clínicos cardiovasculares são determin...
Tumefacção Parotídea Bilateral com Crepitações Subcutâneas
Guerra, I.; Costa, E.; Mansilha, H.; Lima, R.ABSTRACT The presence of air within the parotid gland is called pneumoparotid. This is a rare cause of parotid swelling and is associated to many precipitant factors. A seven -year -old boy was seen at the Emergency Department due to a sudden bilateral parotid swelling. The physical examination revealed a crepitus in the parotid glands. Radiography and ultrasonography suggested the presence of air. This acute e...